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Article

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

The British journal of dermatology - 1 May 2009

Clements S E, Mellerio J E, Holden S T, McCauley J, McGrath J A

Abstract excerpt

Focal dermal hypoplasia (FDH) is an X-linked dominant disorder featuring developmental abnormalities of ectodermal and mesodermal tissues. Pathogenic mutations in the PORCN gene (locus Xp11.23) were identified in 2007 and thus far 27 different mutations have been reported. PORCN encodes a putative O-acyltransferase which facilitates secretion of Wnt proteins required for ectomesodermal tissue development. We...

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Source

Identifiers

PMID: 19292719
DOI: 10.1111/j.1365-2133.2009.09048.x

Genes

PORCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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